Abstract
Hereditary nonpolyposis colorectal carcinoma (HNPCC) is the most common hereditary form of colorectal carcinoma (CRC) and may account for 5-10% of the total CRC burden. The discovery of DNA mismatch repair (MMR) genes, inclusive of hMSH2, hMLH1, hPMS2, and hMSH6, has enabled the identification of who has and who does not have inordinately increased susceptibility to CRC as well as a litany of extracolonic cancers. Mutation testing has focused on hMSH2 and hMLH1, the most common mutations in HNPCC. The protocol for DNA testing and DNA-based genetic counseling is described in Part I of this study. One hundred ninety-nine bloodline relatives were tested and counseled from five hMLH1 and two hMSH2 families. Their major reason for seeking genetic counseling and DNA testing was to inform their children and other loved ones of their mutation status. Those who sought counseling overestimated their risk for inheriting the mutation and showed a high rate of interest in prophylactic surgery, and many were greatly concerned about insurance discrimination. Knowledge about HNPCC, its molecular genetic diagnosis, surveillance and management opportunities, and genetic counseling implications are still emerging, all in the face of a greater need for physician education regarding all facets of hereditary cancer.
| Original language | English |
|---|---|
| Pages (from-to) | 2457-2463 |
| Number of pages | 7 |
| Journal | Cancer |
| Volume | 86 |
| Issue number | 11 SUPPL. |
| State | Published - Dec 1 1999 |
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All Science Journal Classification (ASJC) codes
- Cancer Research
- Oncology
Cite this
Clinical impact of molecular genetic diagnosis, genetic counseling, and management of hereditary cancer : Part II: Hereditary nonpolyposis colorectal carcinoma as a model. / Lynch, Henry T.; Watson, Patrice; Shaw, Trudy G.; Lynch, Jane F.; Harty, Anne E.; Franklin, Barbara A.; Kapler, Christine R.; Tinley, Susan T.; Liu, Bo; Lerman, Caryn.
In: Cancer, Vol. 86, No. 11 SUPPL., 01.12.1999, p. 2457-2463.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Clinical impact of molecular genetic diagnosis, genetic counseling, and management of hereditary cancer
T2 - Part II: Hereditary nonpolyposis colorectal carcinoma as a model
AU - Lynch, Henry T.
AU - Watson, Patrice
AU - Shaw, Trudy G.
AU - Lynch, Jane F.
AU - Harty, Anne E.
AU - Franklin, Barbara A.
AU - Kapler, Christine R.
AU - Tinley, Susan T.
AU - Liu, Bo
AU - Lerman, Caryn
PY - 1999/12/1
Y1 - 1999/12/1
N2 - Hereditary nonpolyposis colorectal carcinoma (HNPCC) is the most common hereditary form of colorectal carcinoma (CRC) and may account for 5-10% of the total CRC burden. The discovery of DNA mismatch repair (MMR) genes, inclusive of hMSH2, hMLH1, hPMS2, and hMSH6, has enabled the identification of who has and who does not have inordinately increased susceptibility to CRC as well as a litany of extracolonic cancers. Mutation testing has focused on hMSH2 and hMLH1, the most common mutations in HNPCC. The protocol for DNA testing and DNA-based genetic counseling is described in Part I of this study. One hundred ninety-nine bloodline relatives were tested and counseled from five hMLH1 and two hMSH2 families. Their major reason for seeking genetic counseling and DNA testing was to inform their children and other loved ones of their mutation status. Those who sought counseling overestimated their risk for inheriting the mutation and showed a high rate of interest in prophylactic surgery, and many were greatly concerned about insurance discrimination. Knowledge about HNPCC, its molecular genetic diagnosis, surveillance and management opportunities, and genetic counseling implications are still emerging, all in the face of a greater need for physician education regarding all facets of hereditary cancer.
AB - Hereditary nonpolyposis colorectal carcinoma (HNPCC) is the most common hereditary form of colorectal carcinoma (CRC) and may account for 5-10% of the total CRC burden. The discovery of DNA mismatch repair (MMR) genes, inclusive of hMSH2, hMLH1, hPMS2, and hMSH6, has enabled the identification of who has and who does not have inordinately increased susceptibility to CRC as well as a litany of extracolonic cancers. Mutation testing has focused on hMSH2 and hMLH1, the most common mutations in HNPCC. The protocol for DNA testing and DNA-based genetic counseling is described in Part I of this study. One hundred ninety-nine bloodline relatives were tested and counseled from five hMLH1 and two hMSH2 families. Their major reason for seeking genetic counseling and DNA testing was to inform their children and other loved ones of their mutation status. Those who sought counseling overestimated their risk for inheriting the mutation and showed a high rate of interest in prophylactic surgery, and many were greatly concerned about insurance discrimination. Knowledge about HNPCC, its molecular genetic diagnosis, surveillance and management opportunities, and genetic counseling implications are still emerging, all in the face of a greater need for physician education regarding all facets of hereditary cancer.
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UR - http://www.scopus.com/inward/citedby.url?scp=17144439173&partnerID=8YFLogxK
M3 - Article
C2 - 10630171
AN - SCOPUS:17144439173
VL - 86
SP - 2457
EP - 2463
JO - Cancer
JF - Cancer
SN - 0008-543X
IS - 11 SUPPL.
ER -